When Isla Edwards, 10, had a routine eye test at school, she could have never imagined it would later lead to the diagnosis of a fatal disease that causes dementia and cognitive decline.
During an eye test in March 2021, when Edwards was 7 years old, it was suggested that she might require glasses as she was having problems with her vision. Unfortunately for the first grader, when her mom, Jacquelyn Stockdale, took her to the opticians, the reality was far more serious than simply needing some new lenses.
Stockdale, 34, from Texas, told Newsweek that Edwards was a perfectly normal, exceptionally healthy child but she was suffering with a genetic condition known as Batten disease. This causes dementia during childhood, delayed development, seizures, blindness, and premature death.
“At this time, there were no signs of anything being wrong with Isla. Her vision was a little fuzzy at long distances, but nothing out of the ordinary for a kid who was on the borderline of needing glasses,” Stockdale said.
After images were taken of Isla’s eyes, it was recommended that she should be seen by a pediatric ophthalmologist immediately. The results were highly concerning, and Stockdale found herself driving 90 minutes to Texas Children’s Hospital in Houston that same day.
“The doctors confirmed that Isla had early signs of pediatric macular degeneration, and a genetic test would need to be done to determine the cause. They swabbed her mouth and gave us a follow-up appointment for August, when the results of the genetic test would be ready,” Stockdale said.
“On August 12, I was told that Isla’s genetic panel had come back positive for a diagnosis of neuronal ceroid lipofuscinoses. Upon further explanation, we learned this disease is more commonly known as CLN3 juvenile Batten disease, a very rare, extremely devastating fatal illness with no treatment or cure.
“I was told that Isla would very soon lose her vision completely, develop childhood dementia and epilepsy, that her mental cognition would start declining, and that her physical abilities would also start to deteriorate. The life expectancy for a child with CLN3 was late teens to early twenties,” Stockdale added.
What Is Batten Disease?
At the time, Stockdale said that she “couldn’t fathom that [her] perfectly healthy child” could be affected by something as devastating as Batten disease.
The Cleveland Clinic says that Batten disease is a group of fatal genetic disorders that affect the body’s ability to get rid of cellular waste. As the body cannot recycle the lipids and proteins, they build up in the body’s cells instead.
The disease can cause a range of symptoms, including vision loss, seizures, dementia, cognitive impairment, speech problems, and lack of coordination. The Cleveland Clinic adds that other symptoms that can occur later include tremors, mood changes, hallucinations, muscle spasticity, and heart problems.
It is an incredibly rare diagnosis, with around 3 in every 100,000 births in the U.S. affected by Batten disease. Sadly, it is fatal and, depending on the severity of its progression, individuals can live until their early twenties, but some children may die as young as 5 years old.
Newsweek spoke to Dr. Josh Bonkowsky, the pediatric neurology division chief and the medical director of the Primary Children’s Center for Personalized Medicine. After seeing the devastating effects of Batten disease, he said that “there is often very little that [he] can do” to help those children.
“Batten disease is terrible; it’s one of many severe terrible diseases that strike infants and children. It starts slowly and then rapidly gets worse,” Bonkowsky added.
“Common early signs can be missing developmental milestones, or actually losing milestones. This is called developmental regression. In some cases, the child or infant may lose vision and start bumping into things, have seizures, or become very unsteady with difficulty walking.”
For any case of Batten disease, Bonkowsky said that the most important thing to help a family is being supportive and present for them.
“The disease and treatment journey can be frightening, but knowing that you are not doing it alone makes a big difference,” Bonkowsky added.
Following the diagnosis, Stockdale researched the condition and was horrified to see what her daughter would endure.
Stockdale said: “There were simply no signs that she was anything other than a perfect, normal little girl. I had to come home and sit with our family and tell them this news, it was a horrific time. We have never discussed any of this with Isla and still feel strongly that no child should have to carry the emotional weight of such a complex diagnosis.”
‘We Couldn’t Be More Hopeful For Her Future’
In the two years since Isla’s diagnosis, the Stockdale family members have refused to give up fighting, and they are still filled with hope each day. Having lost 90 percent of her vision already, Isla is learning Braille, but the family says that her vision impairment is a strength rather than a weakness.
Stockdale said: “We are so proud of where Isla is at today. She has lost a substantial amount of vision since 2021, and she has about 10 percent left. But she still enjoys all the same activities such as swimming, dancing, video games, and has adapted to her current vision level.
“We don’t treat Isla’s vision loss as a sad circumstance or as something that is broken in her. It’s so important for us that she knows her vision impairment is not something that makes her less than. If anything, it makes her a stronger, more amazing person, and we couldn’t be prouder of who she is.
“Vision impairment is the only symptom she displays of this disease, and we are fighting with everything we have to ensure it stays this way. We were told on diagnosis day that that day was the healthiest Isla would ever be, and that she was at her peak; two years later, and she has continued to defy that,” Stockdale added.
The family believes that Isla’s incredible development is a result of the medication, called Miglustat, which she has been taking since November 2022.
There is a clinical trial to test Miglustat, which the Food and Drug Administration (FDA) has already approved for Gaucher’s disease. However, due to the fear of Isla being among the 50 percent of participants to receive a placebo, Stockdale decided to pay for the medication instead.
“The clinical trial started with the hopes that it would prove effective in treating CLN3 Batten disease as well,” she said. “We made the decision to share Isla’s story on social media after it became clear that we could not afford to provide her with necessary treatment without help. Our community came together and raised funds to help us afford the $18,000 a month for the medication.
“Since starting this medication, Isla’s eye deterioration has halted, which is a clear indicator that this medication is working to stop the progression of disease. This could mean that Isla may be the first child to go on to live a full life, free from childhood dementia, ataxia, physical and mental handicaps, and epilepsy,” Stockdale added.
“We still have a long journey in front of us, but as of right now, all her doctors are floored by her progress. We couldn’t be prouder and more hopeful for her future.”
Stockdale said that it is very easy to feel alone with a diagnosis like Batten disease, because it’s so rare. However, she created a Facebook page called ‘Isla’s Faith: Isla Edwards’ Fight Against CLN3 Batten Disease,’ to raise awareness and connect with other families debilitated by the condition.
“Having the support and shared resources of other families is invaluable, and something we are so grateful for,” Stockdale added.
“We firmly believe that Isla will be among the first children to change the history of this disease. She has broken every single barrier and defied every expectation since day one, and we believe she will continue to do so until a cure for CLN3 Batten disease is a reality.”
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